Early postnatal genetic diagnosis for Joubert Syndrome Type 14

Abstract

BACKGROUND: Joubert syndrome is an autosomal recessive condition characterised by a midbrain-hindbrain malformation giving rise to the characteristic “molar tooth sign” on MRI. Common signs and symptoms include neonatal breathing dysregulation, hypotonia and developmental delay. A spectrum of conditions referred to as Joubert syndrome and Related Disorders (JSRD) have also been described, referring to the presence of multiorgan involvement in addition to the neurological signs and symptoms characterising “pure Joubert”.

CASE PRESENTATION: We report a case of JS type 14 (homozygous pathogenic variant in TMEM237) in a male neonate referred antenatally with a brain malformation and bilateral cystic kidneys on ultrasound and MRI, raising the suspicion of a ciliopathy. Clinical features at birth included hypotonia, hydrocephalus, ocular colobomas and breathing difficulties which required mechanical ventilation.

CONCLUSION: Antenatal suspicion followed by confirmation of JS in the immediate postnatal period, has enabled early timely intervention by a multidisciplinary team, thus optimising parental counselling, developmental outcomes, and monitoring for potential future complications.